Identification of a novel mutation of EDA for X-linkedhypohidrotic ectodermal dysplasia (XLHED)

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  X-linked hypohidrotic (or anhidrotic) ectodermal dysplasia (XLHED) is the most common form of the syndrome HED and is characterized by sparse hair, abnormal or missing teeth, and inability to sweat due to the lack of sweat glands.Mutations of EDA gene was identified causing for XLHED.EDA is a type of Ⅱ transmembrane proteins and belong to the tumor necrosis factor (TNF) superfamily of ligands involved in the early epithelial-mesenchymal interaction that regulates ectodermal-derived appendage formation.
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